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Items: 1 to 20 of 413180

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098518copy number variation2nstd102humanPathogenic GRCh37 chrX: 32,715,967-33,038,337 , GRCh38.p12 chrX: 32,697,850-33,020,220 DMD
    nsv6313068copy number variation2nstd102humanPathogenic GRCh37 chrX: 31,697,472-31,950,364 , GRCh38.p12 chrX: 31,679,355-31,932,247 DMD
    nsv6309699copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr14: 67,243,162-67,490,412 , GRCh38.p12 chr14: 66,776,444-67,023,695 GPHN
    nsv3881390copy number variation2nstd102humanPathogenic GRCh37 chrX: 32,827,610-33,038,317 , GRCh38 chrX: 32,809,493-33,020,200 DMD
    nsv7098408copy number variation2nstd102humanPathogenic GRCh37 chrX: 32,662,229-32,867,957 , GRCh38.p12 chrX: 32,644,112-32,849,840 DMD
    nsv7098265copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chrX: 31,496,203-31,697,723 , GRCh38.p12 chrX: 31,478,086-31,679,606 DMD
    nsv4683858copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 32,235,023-32,430,336 , GRCh38.p12 chrX: 32,216,906-32,412,219 DMD
    nsv3883020copy number variation2nstd102humanPathogenic GRCh38 chrX: 31,496,768-31,679,606 , GRCh37 chrX: 31,514,885-31,697,723 DMD
    nsv4681801copy number variation3nstd102humanPathogenic GRCh37 chrX: 31,792,067-31,950,354 , GRCh38.p12 chrX: 31,773,950-31,932,237 DMD
    nsv6313067copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 31,697,472-31,854,956 , GRCh38.p12 chrX: 31,679,355-31,836,839 DMD
    nsv3887387copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chrX: 32,715,967-32,867,957 , GRCh38 chrX: 32,697,850-32,849,840 DMD
    nsv6313234copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 7,137,717-7,268,302 , GRCh38.p12 chrX: 7,219,676-7,350,261 STS
    nsv4683362copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr6: 66,094,279-66,205,303 , GRCh38.p12 chr6: 65,384,386-65,495,410 EYS
    nsv6311933copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 51,148,987-51,255,411 , GRCh38.p12 chr2: 50,921,849-51,028,273 NRXN1
    nsv7094463copy number variation2nstd102humanPathogenic GRCh37 chr15: 28,171,253-28,277,329 , GRCh38.p12 chr15|NW_011332701.1: 60,394-166,482 , GRCh38.p12 chr15: 27,926,107-28,032,183 , GRCh38.p12 chr15|NT_187660.1: 60,394-166,482 OCA2
    nsv7096699copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr3: 154,801,957-154,898,248 , GRCh38.p12 chr3: 155,084,168-155,180,459 MME
    nsv3879671copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr4: 55,524,176-55,604,729 , GRCh38.p12 chr4: 54,658,009-54,738,563 KIT
    nsv5381486copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 47,630,252-47,710,088 , GRCh38.p12 chr2: 47,403,113-47,482,949 MSH2
    nsv7097478copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr7: 124,464,016-124,537,227 , GRCh38.p12 chr7: 124,823,962-124,897,173 POT1
    nsv5564337copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 215,593,400-215,661,851 , GRCh38.p12 chr2: 214,728,676-214,797,127 BARD1
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